[Mevalonate kinase deficiency in 2016].

Area of Science:

• Genetics
• Immunology
• Biochemistry

Background:

• Mevalonate kinase deficiency is a rare, autosomal recessive auto-inflammatory disorder.
• Mutations in the MVK gene impair mevalonate kinase, crucial for cholesterol and isoprenoid synthesis.
• The disease spectrum ranges from Hyperimmunoglobulinemia D and Periodic Fever Syndrome (HIDS) to severe mevalonic aciduria.

Purpose of the Study:

• To summarize the clinical spectrum, diagnosis, and treatment of mevalonate kinase deficiency.
• To highlight the genetic basis and diagnostic markers.
• To discuss therapeutic strategies for different disease severities.

Main Methods:

• Clinical case review and genetic analysis.
• Biochemical assays for mevalonic aciduria.
• Review of diagnostic criteria and treatment outcomes.

Main Results:

• Clinical presentation varies based on residual enzyme activity, from HIDS to mevalonic aciduria.
• Diagnosis relies on detecting mevalonic aciduria during febrile episodes, confirmed by MVK gene mutations (>80%).
• IgD levels are not diagnostically useful.

Conclusions:

• Mevalonate kinase deficiency presents a broad clinical spectrum with distinct phenotypes.
• Early diagnosis through mevalonic acid detection and genetic testing is crucial.
• Treatment is supportive, with NSAIDs/steroids for milder forms and biologics (IL-1, TNF-α, IL-6 inhibitors) for severe cases.